One of the first research developed by Pelé Pequeno Príncipe Research Institute studies the relation between TP53 gene mutation and cancer, especially the adrenal cortex type. Paraná is the state that has the highest incidence of this type of cancer in the world, a fact that sparked the researchers' curiosity.
Developed in many rounds, the population base research began in 2005, and in each new phase, the group of researchers advanced in their understanding of this mutation associated with other genetic and epigenetic variables. In an article published in the Cancers Journal in November (CANCERS, Costa and collaborators, 2019 – click here), the researchers demonstrated the efficiency of a simple and cheaper protocol to monitor the children that presented this mutation.
In the first stage of research in 2005, the protocol established that children with this mutation would undergo periodical image and blood tests. This was for early identification of adrenal cortex cancer, in case it manifested, or of other types of cancer, that are less frequent, but still associated with the mutation. "This way, we were able to have pre-clinical diagnoses and found tumors that were less than a centimeter in size," shared Bonald Cavalcante de Figueiredo, the researcher in charge of the study.
The new protocol established that the families of the boys and girls who have this mutation undergo three training sessions, after genetic counselling, so that they will be able to identify the first signs of cancer as soon as possible. "With this protocol, we reduce the children's exposure to exams and started to identify tumors that were about two centimeters in size. At this size, it is also possible to cure children with surgery," the scientist explained.
South and South-East of Brazil
The article was created based on data collected in about 100,000 DNA exams done with newborns in Paraná, Santa Catarina and metropolitan region of Campinas (São Paulo). Since the beginning of the research, about 350,000 tests have been carried out, including 50,000 in Paraguay.
The research also identified that the TP53 mutation gene was present in more than 80% of the adrenal cortex cancer cases in the three populations studied (Paraná, Santa Catarina and metropolitan region of Campinas). "This means that the frequency is similar in close regions, such as municipalities in the South of Rio de Janeiro, South of Minas Gerais, Rio Grande do Sul, Mato Grosso, and part of Mato Grosso do Sul," detailed Figueiredo.
"The fact that this isn't a health problem specific to one state gives us the strength to think of a public health policy amplified to the South and South-East regions of Brazil," the scientist defended.
Another discovery that was shared in the article refers to the environmental interferences in genetics, favoring the appearance of cancer. The research discovered that in regions where there was identified a large concentration of the DDT pesticide, there was a smaller incidence of adrenal cortex cancer, since it is similar (~98%) to mitotane (Ibañez and collaborators, 2019), one of the medications used to fight adrenal cortex cancer. However, in these same regions, there is an increase of cases of breast cancer among carriers of the mutation. This way, breast cancer increases in more industrialized regions, where the carriers of this mutation live.
The early diagnosis of adrenal cortex cancer is fundamental to save the lives of children with the disease, since this type of cancer doesn't respond well to chemotherapy in later stages. With the early discovery, the tumor is surgically removed, which makes the cure possible.
Since the beginning of the research until today, all the children who have been part of the monitoring process have been diagnosed early, had surgery and have been cured. This allowed them to have a better quality of life and full development.
Every year, 155,000 children are born in Paraná. Of this total, 14 will develop adrenal cortex cancer until they are 12 years old. As an analogy, of this total, every year, about 9 children will be born with phenylketonuria and 12 with cystic fibrosis, the two researched diseases in the obligatory birth test.
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